Canonical Allele Identifier: CA349616331

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178569883-T-A
• MyVariant Identifiers: chr2:g.179434610T>A (hg19) ; chr2:g.178569883T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569883T>A , CM000664.2:g.178569883T>A	GRCh38
NC_000002.11:g.179434610T>A , CM000664.1:g.179434610T>A	GRCh37
NC_000002.10:g.179142856T>A	NCBI36
NG_011618.3:g.265920A>T , LRG_391:g.265920A>T
NG_051363.1:g.52057T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.68545A>T (TTN)	ENSP00000343764.6:p.Ile22849Leu
ENST00000342175.11:c.49630A>T (TTN)	ENSP00000340554.6:p.Ile16544Leu
ENST00000359218.10:c.49429A>T (TTN)	ENSP00000352154.5:p.Ile16477Leu
ENST00000342175.10:c.49630A>T (TTN)	ENSP00000340554.6:p.Ile16544Leu
ENST00000342992.10:c.68545A>T (TTN)	ENSP00000343764.6:p.Ile22849Leu
ENST00000359218.9:c.49429A>T (TTN)	ENSP00000352154.5:p.Ile16477Leu
ENST00000460472.6:c.49054A>T (TTN)	ENSP00000434586.1:p.Ile16352Leu
ENST00000589042.5:c.76249A>T (TTN) MANE Select	ENSP00000467141.1:p.Ile25417Leu
ENST00000591111.5:c.71326A>T (TTN)	ENSP00000465570.1:p.Ile23776Leu
ENST00000615779.4:c.71326A>T (TTN)	ENSP00000483597.1:p.Ile23776Leu
NM_001256850.1:c.71326A>T (TTN)	NP_001243779.1:p.Ile23776Leu
NM_001267550.2:c.76249A>T (TTN) MANE Select	NP_001254479.2:p.Ile25417Leu
NM_003319.4:c.49054A>T (TTN)	NP_003310.4:p.Ile16352Leu
NM_133378.4:c.68545A>T (TTN)	NP_596869.4:p.Ile22849Leu
NM_133432.3:c.49429A>T (TTN)	NP_597676.3:p.Ile16477Leu
NM_133437.4:c.49630A>T (TTN)	NP_597681.4:p.Ile16544Leu
NR_038271.1:n.447-1417T>A (TTN-AS1)
NR_038272.1:n.2044-12689T>A (TTN-AS1)
XM_011511729.1:c.75346A>T (TTN)	XP_011510031.1:p.Ile25116Leu
XM_011511730.1:c.49240A>T (TTN)	XP_011510032.1:p.Ile16414Leu
XM_011511731.1:c.49099A>T (TTN)	XP_011510033.1:p.Ile16367Leu
XM_017004819.1:c.75142A>T (TTN)	XP_016860308.1:p.Ile25048Leu
XM_017004820.1:c.70540A>T (TTN)	XP_016860309.1:p.Ile23514Leu
XM_017004821.1:c.70537A>T (TTN)	XP_016860310.1:p.Ile23513Leu
XM_017004822.1:c.67579A>T (TTN)	XP_016860311.1:p.Ile22527Leu
XM_017004823.1:c.49195A>T (TTN)	XP_016860312.1:p.Ile16399Leu
XM_024453094.1:c.70690A>T (TTN)	XP_024308862.1:p.Ile23564Leu
XM_024453095.1:c.70687A>T (TTN)	XP_024308863.1:p.Ile23563Leu
XM_024453096.1:c.70120A>T (TTN)	XP_024308864.1:p.Ile23374Leu
XM_024453097.1:c.67462A>T (TTN)	XP_024308865.1:p.Ile22488Leu
XM_024453098.1:c.67381A>T (TTN)	XP_024308866.1:p.Ile22461Leu
XM_024453099.1:c.49144A>T (TTN)	XP_024308867.1:p.Ile16382Leu
XM_024453100.1:c.38998A>T (TTN)	XP_024308868.1:p.Ile13000Leu